gps1

Ensembl ID:
ENSDARG00000040650
ZFIN ID:
ZDB-GENE-041111-240
Description:
COP9 signalosome complex subunit 1 [Source:RefSeq peptide;Acc:NP_001071227]
Human Orthologue:
GPS1
Human Description:
G protein pathway suppressor 1 [Source:HGNC Symbol;Acc:4549]
Mouse Orthologue:
Gps1
Mouse Description:
G protein pathway suppressor 1 Gene [Source:MGI Symbol;Acc:MGI:2384801]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa45144 Nonsense Mutation detected in F1 DNA During 2018
sa33237 Essential Splice Site Available for shipment Available now
sa11784 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa45144
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000059506 Nonsense 168 487 5 14
ENSDART00000141106 Nonsense 171 490 5 14

The following transcripts of ENSDARG00000040650 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 3 (position 36240795)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 36112079
GRCz11 3 36241677
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CATGTCCTGCGTGTGTTCAGGAGGGGTCACGATGACCTTGGAGATCACTA[T/A]CTTGACTGCGGTGACCTCAGCAATGCCCTGAAATGCTACTCCCGAGCCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33237
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000059506 Essential Splice Site 310 487 9 14
ENSDART00000141106 Essential Splice Site 313 490 9 14

The following transcripts of ENSDARG00000040650 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 3 (position 36238482)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 36109766
GRCz11 3 36239364
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGGCTACGTTTGACAGACAGGAATTGCAGCGAAATGTCATCTCAAGCAGG[T/C]GAATTTAAATGTTTAGCATTTGCAGTCTCTTTATATATGAGGTATATTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11784
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000059506 Essential Splice Site 345 487 10 14
ENSDART00000141106 Essential Splice Site 348 490 10 14

The following transcripts of ENSDARG00000040650 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 3 (position 36238272)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 36109556
GRCz11 3 36239154
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTTAYGAGTCAAAGTATGCATCTTGTCTGAAAATGCTGGATGAAATGAAG[G/A]TAAGATTGACTAAGCAGAGTTTCAGATAGTRATTTCTGTCTCTTGTRGTT
Associated Phenotype:
Not determined

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